Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

nork Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Millán, José M., García-García, Gema
Argitaratua izan da Genes (Basel) (2020)

Assessment of the latest NGS enrichment capture methods in clinical context

nork García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Argitaratua izan da Sci Rep (2016)

Updating the Genetic Landscape of Inherited Retinal Dystrophies

nork García Bohórquez, Belén, Aller, Elena, Rodríguez Muñoz, Ana, Jaijo, Teresa, García García, Gema, Millán, José M.
Argitaratua izan da Front Cell Dev Biol (2021)

Usher Syndrome: Genetics of a Human Ciliopathy

nork Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, Millán, José M., García-García, Gema
Argitaratua izan da Int J Mol Sci (2021)

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

nork García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Argitaratua 2013

Genetic Screening of the Usher Syndrome in Cuba

nork Santana, Elayne E., Fuster-García, Carla, Aller, Elena, Jaijo, Teresa, García-Bohórquez, Belén, García-García, Gema, Millán, José M., Lantigua, Araceli
Argitaratua izan da Front Genet (2019)

Experience of targeted Usher exome sequencing as a clinical test

nork Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Argitaratua 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

nork García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Argitaratua 2014

USH2A Gene Editing Using the CRISPR System

nork Fuster-García, Carla, García-García, Gema, González-Romero, Elisa, Jaijo, Teresa, Sequedo, María D., Ayuso, Carmen, Vázquez-Manrique, Rafael P., Millán, José M., Aller, Elena
Argitaratua izan da Mol Ther Nucleic Acids (2017)

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

nork Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Fornés, Neus, Ayuso, Carmen, Fernández-Burriel, Miguel, Sánchez-De la Morena, Ana, Aller, Elena, Millán, José M.
Argitaratua izan da Sci Rep (2018)

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

nork Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
Argitaratua izan da Front Genet (2020)

Novel mutations in the USH1C gene in Usher syndrome patients

nork Aparisi, María José, García-García, Gema, Jaijo, Teresa, Rodrigo, Regina, Graziano, Claudio, Seri, Marco, Simsek, Tulay, Simsek, Enver, Bernal, Sara, Baiget, Montserrat, Pérez-Garrigues, Herminio, Aller, Elena, Millán, José María
Argitaratua 2010

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

nork Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Argitaratua izan da Orphanet J Rare Dis (2014)

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

nork Aller, Elena, Sánchez-Sánchez, Ana V., Chicote, Javier U., García-García, Gema, Udaondo, Patricia, Cavallé, Laura, Piquer-Gil, Marina, García-España, Antonio, Díaz-Llopis, Manuel, Millán, José M., Mullor, José L.
Argitaratua 2013

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

nork García-García, Gema, Berzal-Serrano, Alba, García-Díaz, Piedad, Villanova-Aparisi, Rebeca, Juárez-Rodríguez, Sara, de Paula-Vernetta, Carlos, Cavallé-Garrido, Laura, Jaijo, Teresa, Armengot-Carceller, Miguel, Millán, José M, Aller, Elena
Argitaratua izan da Genes (Basel) (2020)

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

nork Aparisi, María José, García-García, Gema, Aller, Elena, Sequedo, María Dolores, Martínez-Fernández de la Cámara, Cristina, Rodrigo, Regina, Armengot, Miguel, Cortijo, Julio, Milara, Javier, Díaz-LLopis, Manuel, Jaijo, Teresa, Millán, José María
Argitaratua 2013

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

nork García-García, Gema, Aparisi, María J., Rodrigo, Regina, Sequedo, María D., Espinós, Carmen, Rosell, Jordi, Olea, José L., Mendívil, M. Paz, Ramos-Arroyo, María A, Ayuso, Carmen, Jaijo, Teresa, Aller, Elena, Millán, José M.
Argitaratua 2012

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

nork Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Argitaratua 2011

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

nork Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M., Ayuso, Carmen
Argitaratua izan da PLoS One (2018)

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

nork Aller, Elena, Jaijo, Teresa, van Wijk, Erwin, Ebermann, Inga, Kersten, Ferry, García-García, Gema, Voesenek, Krysta, Aparisi, María José, Hoefsloot, Lies, Cremers, Cor, Díaz-Llopis, Manuel, Pennings, Ronald, Bolz, Hanno J., Kremer, Hannie, Millán, José M.
Argitaratua 2010